What are the odds?

Written by None - Do not Delete on . Posted in Breaking News, Posts.

Something wasn’t right with baby Jackson. The doctor was concerned about his weight gain. By the time he was three weeks old, he still wasn’t back up to his birth weight.

“Something was funny about his lower jaw. He couldn’t breast feed; it would take him a really long time to finish a bottle,” recalls his mother, Wendi Lee, now 38. “Because of the jaw, and his ears look a little funny—they’re a little lower set—and the feeding problem, [the doctor said] we’re going to send you to have a chromosomal karyotype done.” A karyotype identifies and evaluates the size, shape, and number of chromosomes in a sample of body cells.

Because Lee and her husband had opted not to have prenatal testing done, they didn’t know until Jackson was five weeks old that he had an extremely rare genetic disorder in which a portion of his fourth chromosome appears three times, rather than twice, in some of the cells of his body. Jackson Lee turned three in July. He is fed at night through a “G-tube,” a gastric feeding tube inserted through a small incision in the abdomen into the stomach, because he still has trouble gaining weight. During the day, he drinks out of a straw cup or eats baby food. “It takes him longer to learn things, longer to walk, longer to learn words; feeding is still an issue for him,” says Wendi Lee.

Still, he’s lucky.

About 1 in 150 babies is born with some sort of chromosomal abnormality, according to the American College of Obstetricians and Gynecologists. Such defects occur when an egg or sperm cell is damaged or divides incorrectly, resulting in an embryo with too many chromosomes (trisomy) or too few (monosomy). Far and away the most common genetic abnormality is Trisomy 21, or Down syndrome, which occurs in approximately 1 in 800 births, according to the Centers for Disease Control and Prevention. Like most chromosomal abnormalities, the occurrence of Down syndrome increases with the mother’s age, from 1 in 1250 at age 25 to 1 in 30 at age 45.

The other two most-occurring trisomies are Edward’s Syndrome (Trisomy 18) and Patau Syndrome (Trisomy 13). Both genetic disorders occur in 1 of 5,000 to 10,000 live-born infants and present a combination of birth defects, including severe mental retardation and health problems. Both can be deadly: 50 percent of infants with Edward’s Syndrome do not survive beyond the first week of life, and more than 80 percent of children with Patau Syndrome die in the first month, according to the U.S. National Library of Medicine.

While rare, Edward’s and Patau syndromes are common enough to have a dedicated support group. The Support Organization for Trisomy 18, 13, and Related Disorders, or SOFT, holds an annual conference for affected families.

But there is no such support system for families affected by Jackson’s disorder, Trisomy 4, a syndrome so uncommon it does not have a colloquial name. It is listed by the National Institutes of Health’s Office of Rare Diseases, which means that it affects fewer than 200,000 people in the U.S. Researching the disorder is a challenge unto itself. Even Lee’s geneticist did not have any specific information on Jackson’s disorder.

A diagnosis of Trisomy 4 can be particularly difficult not only because it’s anomalous, but also because it could mean almost anything. Trisomy 4 in its pure form will kill a fetus before an amniocentesis can be done, explains Dorothy Warburton, PhD, a professor of Clinical Genetics and Development at Columbia University Medical Center. So when an amniocentesis reveals Trisomy 4, what that actually means is that some cells are normal, while others are abnormal.

“The problem with these always is that the outcome is actually fairly uncertain, and no one can tell [the mother] exactly whether the child is going to be abnormal or not,” says Warburton. “She would have to be given some kind of risk, based on other cases, so it’s not like having Down Syndrome diagnosed, where you’re sure it’s going to happen. It’s an uncertain kind of situation, not a very happy one to be in.”

Warburton has seen a case or two of Trisomy 4 in its partial, or “mosaic,” form. In each instance, the woman chose to terminate. The decision is more emotionally stressful than one in which an abnormality is definite, says Warburton. “It’s much harder than if someone tells you, this is what it’s going to be, for sure. Then it’s much easier to make up your mind. With this, you always have the thought in your mind that you could be terminating a perfectly normal baby.”

What Are The Odds?

Written by John DeSio on . Posted in Posts, Sports.

Talk about unlucky.

On Wednesday during the Principal Charity Classic pro-am golf tournament at the Glen Oaks Country Club, actor Rob Lowe put a ball into the air and struck a small goldfinch in mid-flight. When The Principal analysts worked out the numbers, Lowe had accidentally accomplished something against 240 million-to-one odds when he struck the small bird.

“We told Rob participating our inaugural
event would be a great feather in his cap, but we didnt
realize hed take it so seriously,
said Barry Griswell, chairman and CEO of The Principal.

There is no video of Lowe’s shot, but that won’t stop me. A few years ago Randy Johnson struck a bird in mid-flight with a pitch.